Vicente-Santamaría Saioa, Torres-Guerrero María Emilia, García-González Miguel, Tabares-González Ana, Gascón-Galindo Celia, López-Cárdenes Concepción Marina, Blitz-Castro Enrique, Morales-Tirado Ana, Mota-Goitia María Inmaculada, Gutiérrez-Martínez José Ramón, Tutau-Gómez Carlos, García-Romero Ruth, Salcedo-Lobato Enrique, Peña-Quintana Luis, Reyes-Domínguez Ana, Torcuato-Rubio Encarnación, Ortiz-Pérez Pilar, Fernández-Lorenzo Ana Estefanía, Moreno-Álvarez Ana, Solar-Boga Alfredo, Romero-Rey Henar, Álvarez-Beltrán Marina, Masip-Simó Etna, González-Jiménez David
Unidad de Fibrosis Quística, Servicio Pediatría, Hospital Universitario Ramón y Cajal, Madrid, Spain; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Universidad de Alcalá, Madrid, Spain; Departamento de Ciencias de la Salud, Universidad de Alcalá, Alcalá de Henares, Spain.
Servicio de Gastroenterología y Hepatología, Hospital Universitario Ramón y Cajal, Madrid, Spain; Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Hospital Universitario Ramón y Cajal, Madrid, Spain.
Gastroenterol Hepatol. 2025 May;48(5):502321. doi: 10.1016/j.gastrohep.2024.502321. Epub 2024 Dec 13.
Cystic fibrosis (CF) is an autosomal recessive, chronic, potentially lethal genetic disease. CF manifestations are due to mutations in the CF transmembrane receptor transporter (CFTR) gene which codes for a protein (CFTR) that acts as an anion transporter, mainly chlorine, at epithelial cells where it is expressed. Cystic fibrosis related liver disease (CFRLD) includes a spectrum of hepatobiliary manifestations whose diagnosis and follow-up remains a challenge.
Cross-sectional, descriptive study from 10 Spanish cystic fibrosis units. Clinical and biochemical data obtained. Patients categorized into 3 groups according to liver involvement based on ESPGHAN 2017 criteria. Liver stiffness assessed by transient elastography (TE) and findings from abdominal ultrasound recorded. Statistics performed using SPSS v25.0.
We obtained hepatic TE data from 155 pediatric CF patients. Forty-four classified as CFRLD, 38 (86%) had CFRLD without cirrhosis and 6 (14%) had cirrhosis. Fourteen patients without CFRLD (12%) had ultrasound abnormalities. Mean liver elastography value (kPa) was 4.7 (3.5-5.3) in non-CFRLD and 6.09 (4.4-6.7) in CFRLD (p=0.01; T Student [T]).
CFRLD is common in children with CF. Transient elastography is a useful method for diagnosis and follow-up, as higher values of TE are found in patients with CFRLD.
囊性纤维化（CF）是一种常染色体隐性慢性潜在致命性遗传病。CF的表现是由于囊性纤维化跨膜受体转运体（CFTR）基因突变所致，该基因编码一种蛋白质（CFTR），在其表达的上皮细胞中作为阴离子转运体，主要转运氯离子。囊性纤维化相关肝病（CFRLD）包括一系列肝胆表现，其诊断和随访仍然是一项挑战。
对来自10个西班牙囊性纤维化治疗中心进行横断面描述性研究。获取临床和生化数据。根据2017年欧洲儿科胃肠病、肝病和营养学会（ESPGHAN）标准，根据肝脏受累情况将患者分为3组。通过瞬时弹性成像（TE）评估肝脏硬度，并记录腹部超声检查结果。使用SPSS v25.0进行统计学分析。
我们获得了155例儿科CF患者的肝脏TE数据。44例被归类为CFRLD，其中38例（86%）患有无肝硬化的CFRLD，6例（14%）患有肝硬化。14例无CFRLD的患者（12%）有超声异常。非CFRLD患者的平均肝脏弹性成像值（kPa）为4.7（3.5 - 5.3），CFRLD患者为6.09（4.4 - 6.7）（p = 0.01；t检验）。
CFRLD在CF儿童中很常见。瞬时弹性成像是诊断和随访的有用方法，因为CFRLD患者的TE值更高。
